RESUMEN
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with multisystemic involvement usually resulting from mutations in the tuberous sclerosis 1 (TSC1) or TSC2 genes. However, 10 to 25% of patients do not exhibit these mutations. Cerebral cavernous malformations (CCMs) are capillary-venous malformations that can be asymptomatic or cause variable neurological manifestations, including seizures. Familial CCMs are recognized. In both conditions, specific dermatological lesions are associated. We present the case of a 31-year-old female with TSC diagnosed at the age of 18 years who presented with negative genetic testing. She was admitted to our department in 2019 for a sudden increased frequency of focal seizures. Patient examination revealed multiple facial and intraoral angiofibroma, diplopia, right hemihypoesthesia, brisk deep tendon reflexes, and distal leg paresthesia. VideoEEG indicated a frontal paramedian epileptogenic focus. Cerebral magnetic resonance imaging (MRI) and angioMRI identified multiple fronto-parietal cortical tubers, as well as multiple CCMs, with evidence of bleeding in one. Under antiepileptic drug (AED) and mTOR inhibitor treatment, the seizure frequency significantly improved in a short period of time. This is the first reported case of tuberous sclerosis with negative genetic testing associated with multiple cerebral cavernoma. Such complex patients require multidisciplinary management and detailed genetic testing for increasing knowledge on neuro-cutaneous disorders.
RESUMEN
We present the case of a 65-year-old female, with no prior medical history, who came to our attention for painful paresthesias involving the distal lower limbs and progressive gait disturbance, accompanied by fatigue, involuntary weight loss, xerophthalmia and xerostomia. Due to a right-sided cervical tumefaction, cervical MRI was performed and revealed an enlarged right parotid gland. Electroneurography confirmed the presence of a chronic sensorimotor axonal neuropathy with active denervation. Blood and urinary samples were collected, highlighting the presence of anti SS-A and SS-B antibodies, with cryoglobulinemia, IgM monoclonal band and kappa light chain monoclonal band. No malignancies were found after extensive workup and bone marrow aspiration was normal. Consequently, a diagnosis of Sjögren syndrome-associated peripheral neuropathy with cryoglobulinemia was established, and after plasma exchange, partial improvement of the patient's gait was noted.